A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343629



Internal ID22143085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142832638..142838355hg38UCSC Ensembl
chr8:143914054..143919771hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385718
hg195718
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244758
Supporting Variants
SamplesHG00513
Known GenesGML
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343629
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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